Transcriptome-wide association studies (TWAS) integrate genome-wide association studies
(GWAS) and gene expression datasets to identify gene–trait associations. In this …

Most disease-associated variants, although located in putatively regulatory regions, do not
have detectable effects on gene expression. One explanation could be that we have not …

Human brain structure changes throughout the lifespan. Altered brain growth or rates of
decline are implicated in a vast range of psychiatric, developmental and neurodegenerative …

Migraine affects over a billion individuals worldwide but its genetic underpinning remains
largely unknown. Here, we performed a genome-wide association study of 102,084 …

Clonal hematopoiesis (CH) arises when a substantial proportion of mature blood cells is
derived from a single hematopoietic stem cell lineage. Using whole-genome sequencing of …

While many genetic variants have been associated with risk for human diseases, how these
variants affect gene expression in various cell types remains largely unknown. To address …

Abstract Characterization of the molecular function of the human genome and its variation
across individuals is essential for identifying the cellular mechanisms that underlie human …

Heritable variation in gene expression is common within and between species. This
variation arises from mutations that alter the form or function of molecular gene regulatory …

To characterize type 2 diabetes (T2D)-associated variation across the allele frequency
spectrum, we conducted a meta-analysis of genome-wide association data from 26,676 T2D …

Existing knowledge of genetic variants affecting risk of coronary artery disease (CAD) is
largely based on genome-wide association study (GWAS) analysis of common SNPs …